Varaico: Literature-Extracted Genetic Variants

Gene:AP3S1
Variant:p.G12R

AP3S1

48 papers

RefSeq Summary

This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been f...

Pfam Domains

Clat_adaptor_saa 1–148UCSCClathrin adaptor complex small chain

Gene Aliases

HGNC Name

adaptor related protein complex 3 subunit sigma 1

HGNC Previous Symbol

CLAPS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001284.4
p.G12R
c.34G>C
Surrounding Variants
1 paper
NM_001284.4
p.G12R
c.34G>A
1 paper
NM_001284.4
p.P22ins4
c.64_65ins12
1 paper
NM_001284.4
p.P22_Y23ins4
c.66_67ins12
1 paper
NM_001284.4
p.M1delins
c.3delinsCTGGCTTAGCAGGAGCTCTAGCCCGTGCTGTATC
1 paper
NM_001284.4
p.I2insFs
c.5_6ins7
1 paper
NM_001284.4
p.M1_I2ins13
c.3_4ins39
1 paper
NM_001284.4
p.P22_Y23insFs
c.66_67insAG
1 paper
NM_001284.4
p.M1K
c.2T>A
1 paper
NM_001284.4
p.M1insFs
c.2_3insC
1 paper
NM_001284.4
p.M1ins2
c.2_3ins6
1 paper
NM_001284.4
p.Y23fs
c.67_68fs
1 paper
NM_001284.4
p.Y23_S24insFs
c.69_70insA
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